rs116840789
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs116840789(A;A) |
| Make rs116840789(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 8745547 |
| Gene | CAV3, SSUH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs116840789 |
| dbSNP (classic) | rs116840789 |
| ClinGen | rs116840789 |
| ebi | rs116840789 |
| HLI | rs116840789 |
| Exac | rs116840789 |
| Gnomad | rs116840789 |
| Varsome | rs116840789 |
| LitVar | rs116840789 |
| Map | rs116840789 |
| PheGenI | rs116840789 |
| Biobank | rs116840789 |
| 1000 genomes | rs116840789 |
| hgdp | rs116840789 |
| ensembl | rs116840789 |
| geneview | rs116840789 |
| scholar | rs116840789 |
| rs116840789 | |
| pharmgkb | rs116840789 |
| gwascentral | rs116840789 |
| openSNP | rs116840789 |
| 23andMe | rs116840789 |
| SNPshot | rs116840789 |
| SNPdbe | rs116840789 |
| MSV3d | rs116840789 |
| GWAS Ctlg | rs116840789 |
| Merged from | Rs121909276 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs116840789(A;A) rs116840789(T;T) |
| Alt | rs116840789(A;A) rs116840789(T;T) |
| Reference | Rs116840789(G;G) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy Rippling muscle disease 2 Creatine phosphokinase not provided |
| Variation | info |
| Gene | SSUH2 CAV3 |
| CLNDBN | Limb-girdle muscular dystrophy, type 1C Rippling muscle disease 2 Creatine phosphokinase, elevated serum not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.8787233G>A; NC_000003.11:g.8787233G>T |
| CLNSRC | Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008772.4, RCV000008773.3, RCV000008774.3, RCV000024382.1, RCV000024440.1, |
[PMID 11001938] Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.
[PMID 1146501] A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen.
[PMID 10227634] Phenotypic variability in rippling muscle disease.
[PMID 11431690] Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
[PMID 15580566] Molecular and muscle pathology in a series of caveolinopathy patients.
[PMID 12666119] Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
[PMID 17994539] Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
[PMID 18583131] Caveolinopathy--new mutations and additional symptoms.
[PMID 20229577] Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.
